SMDP2
MCID: SRF003
MIFTS: 39

Surfactant Metabolism Dysfunction, Pulmonary, 2 (SMDP2)

Categories: Genetic diseases, Metabolic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Surfactant Metabolism Dysfunction, Pulmonary, 2

MalaCards integrated aliases for Surfactant Metabolism Dysfunction, Pulmonary, 2:

Name: Surfactant Metabolism Dysfunction, Pulmonary, 2 57 29 13 6 70
Interstitial Lung Disease Due to Surfactant Protein C Deficiency 57 58 72
Desquamative Interstitial Pneumonitis Due to Surfactant Protein C Deficiency 57 72
Smdp2 57 72
Chronic Respiratory Distress with Surfactant Metabolism Deficiency 58
Surfactant Metabolism Dysfunction, Pulmonary, Type 2 39
Interstitial Lung Disease Due to Sp-C Deficiency 58
Pulmonary Alveolar Proteinosis, Congenital, 2 57
Pulmonary Surfactant Metabolism Dysfunction 2 72
Congenital Pulmonary Alveolar Proteinosis 2 72
Pap 72

Characteristics:

Orphanet epidemiological data:

58
chronic respiratory distress with surfactant metabolism deficiency
Inheritance: Autosomal dominant; Age of onset: All ages;
interstitial lung disease due to sp-c deficiency
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Infancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
reduced penetrance
progressive disease
occurs in full-term newborns
highly variable pathologic phenotype
onset in the first months of life
respiratory distress may be precipitated by viral respiratory infection
some patients may live to adulthood
favorable response to hydroxychloroquine treatment


HPO:

31
surfactant metabolism dysfunction, pulmonary, 2:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare respiratory diseases


External Ids:

OMIM® 57 610913
OMIM Phenotypic Series 57 PS265120
MeSH 44 D011649
ICD10 via Orphanet 33 J84.8
MedGen 41 C1970470
UMLS 70 C1970470

Summaries for Surfactant Metabolism Dysfunction, Pulmonary, 2

UniProtKB/Swiss-Prot : 72 Pulmonary surfactant metabolism dysfunction 2: A rare disease associated with progressive respiratory insufficiency and lung disease with a variable clinical course, due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress.

MalaCards based summary : Surfactant Metabolism Dysfunction, Pulmonary, 2, also known as interstitial lung disease due to surfactant protein c deficiency, is related to pulmonary alveolar proteinosis, acquired and surfactant metabolism dysfunction, pulmonary, 4, and has symptoms including dyspnea, respiratory distress and cyanosis. An important gene associated with Surfactant Metabolism Dysfunction, Pulmonary, 2 is SFTPC (Surfactant Protein C). Affiliated tissues include lung, cervix and liver, and related phenotypes are failure to thrive and cough

OMIM® : 57 Surfactant protein C (SPC) deficiency is a rare autosomal dominant disease associated with progressive respiratory insufficiency and lung disease with a variable clinical course. The pathophysiology of the disorder is postulated to involve intracellular accumulation of a structurally defective SPC protein (Thomas et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (265120). (610913) (Updated 20-May-2021)

Related Diseases for Surfactant Metabolism Dysfunction, Pulmonary, 2

Diseases in the Surfactant Metabolism Dysfunction, Pulmonary, 1 family:

Surfactant Metabolism Dysfunction, Pulmonary, 4 Surfactant Metabolism Dysfunction, Pulmonary, 2
Surfactant Metabolism Dysfunction, Pulmonary, 3 Surfactant Metabolism Dysfunction, Pulmonary, 5

Diseases related to Surfactant Metabolism Dysfunction, Pulmonary, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 383)
# Related Disease Score Top Affiliating Genes
1 pulmonary alveolar proteinosis, acquired 11.6
2 surfactant metabolism dysfunction, pulmonary, 4 11.5
3 pulmonary alveolar proteinosis 11.4
4 surfactant metabolism dysfunction, pulmonary, 5 11.3
5 surfactant metabolism dysfunction, pulmonary, 1 11.3
6 cervical cancer 11.2
7 polydactyly, postaxial, type a1 11.2
8 congenital pulmonary alveolar proteinosis 11.2
9 pituitary adenoma 1, multiple types 11.0
10 polydactyly, postaxial, type a10 11.0
11 secondary pulmonary alveolar proteinosis 10.9
12 vaginal cancer 10.9
13 hereditary pulmonary alveolar proteinosis 10.9
14 human papillomavirus infectious disease 10.9
15 surfactant metabolism dysfunction, pulmonary, 3 10.9
16 interstitial lung and liver disease 10.9
17 cervix disease 10.9
18 chondrodysplasia with joint dislocations, gpapp type 10.9
19 mycoplasma pneumoniae pneumonia 10.9
20 cervix uteri carcinoma in situ 10.8
21 cervical intraepithelial neoplasia 10.8
22 sleep apnea 10.6
23 squamous cell papilloma 10.5
24 papilloma 10.5
25 suppressor of tumorigenicity 3 10.5
26 adenocarcinoma in situ 10.4
27 pancreatitis 10.4
28 pyelonephritis 10.4
29 chlamydia 10.4
30 in situ carcinoma 10.4
31 endometrial cancer 10.4
32 acute pancreatitis 10.3
33 bacterial vaginosis 10.3
34 interstitial lung disease 10.3
35 protein c deficiency 10.3
36 lung disease 10.3
37 adenocarcinoma 10.3
38 prostatic hypertrophy 10.3
39 endometrial adenocarcinoma 10.3
40 cervicitis 10.3
41 vaginal discharge 10.3
42 anus cancer 10.2
43 vaginitis 10.2
44 cystic fibrosis 10.2
45 fibrosis of extraocular muscles, congenital, 1 10.2
46 endocervical adenocarcinoma 10.2
47 acute cystitis 10.2
48 immune deficiency disease 10.2
49 endometrial hyperplasia 10.2
50 candidiasis 10.1

Graphical network of the top 20 diseases related to Surfactant Metabolism Dysfunction, Pulmonary, 2:



Diseases related to Surfactant Metabolism Dysfunction, Pulmonary, 2

Symptoms & Phenotypes for Surfactant Metabolism Dysfunction, Pulmonary, 2

Human phenotypes related to Surfactant Metabolism Dysfunction, Pulmonary, 2:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 very rare (1%) HP:0001508
2 cough 31 very rare (1%) HP:0012735
3 clubbing 31 very rare (1%) HP:0001217
4 absent bronchoalveolar surfactant-protein c 31 very rare (1%) HP:0032980
5 tachypnea 31 HP:0002789
6 respiratory distress 31 HP:0002098
7 cyanosis 31 HP:0000961
8 interstitial pneumonitis 31 HP:0006515
9 decreased dlco 31 HP:0045051
10 reduced forced vital capacity 31 HP:0032341
11 intraalveolar phospholipid accumulation 31 HP:0006517

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

Skin Nails Hair Skin:
cyanosis

Skeletal Hands:
digital clubbing

Respiratory:
dyspnea
tachypnea
respiratory distress

Respiratory Lung:
alveolar proteinosis
interstitial fibrosis
alveoli filled with granular or foamy surfactant protein exudate
alveoli contain desquamated type ii pneumocytes and macrophages
type ii pneumocyte hyperplasia
more
Growth Weight:
poor weight gain in infancy

Clinical features from OMIM®:

610913 (Updated 20-May-2021)

UMLS symptoms related to Surfactant Metabolism Dysfunction, Pulmonary, 2:


dyspnea; respiratory distress; cyanosis

Drugs & Therapeutics for Surfactant Metabolism Dysfunction, Pulmonary, 2

Search Clinical Trials , NIH Clinical Center for Surfactant Metabolism Dysfunction, Pulmonary, 2

Genetic Tests for Surfactant Metabolism Dysfunction, Pulmonary, 2

Genetic tests related to Surfactant Metabolism Dysfunction, Pulmonary, 2:

# Genetic test Affiliating Genes
1 Surfactant Metabolism Dysfunction, Pulmonary, 2 29 SFTPC

Anatomical Context for Surfactant Metabolism Dysfunction, Pulmonary, 2

MalaCards organs/tissues related to Surfactant Metabolism Dysfunction, Pulmonary, 2:

40
Lung, Cervix, Liver, Pancreas, Myeloid, Bone, Brain

Publications for Surfactant Metabolism Dysfunction, Pulmonary, 2

Articles related to Surfactant Metabolism Dysfunction, Pulmonary, 2:

(show all 16)
# Title Authors PMID Year
1
New surfactant protein C gene mutations associated with diffuse lung disease. 6 57
19443464 2009
2
Hydroxychloroquine and surfactant protein C deficiency. 57 6
15647591 2005
3
Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. 57 6
15293602 2004
4
Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. 57 6
15039969 2004
5
Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred. 6 57
11991887 2002
6
Mutations in the surfactant protein C gene associated with interstitial lung disease. 6 57
11893657 2002
7
A mutation in the surfactant protein C gene associated with familial interstitial lung disease. 57 6
11207353 2001
8
Familial fibrocystic pulmonary dysplasia: a new case in a known affected family. 57 6
5942662 1966
9
Familial fibrocystic pulmonary dysplasia and its relation to Hamman-Rich syndrome. 6 57
13817571 1959
10
Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene. 57
15557112 2005
11
Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation. 6
15572558 2004
12
Deletion of exon 4 from human surfactant protein C results in aggresome formation and generation of a dominant negative. 6
12538769 2003
13
Idiopathic interstitial pneumonitis in children: a national survey in the United Kingdom and Ireland. 57
12112793 2002
14
Surfactant protein deficiency in familial interstitial lung disease. 57
11445799 2001
15
Inhibition of cellular processing of surfactant protein C by drugs affecting intracellular pH gradients. 57
8662952 1996
16
Childhood interstitial lung disease due to surfactant protein C deficiency: frequent use and costs of hospital services for a single case in Australia. 61
24642012 2014

Variations for Surfactant Metabolism Dysfunction, Pulmonary, 2

ClinVar genetic disease variations for Surfactant Metabolism Dysfunction, Pulmonary, 2:

6 (show top 50) (show all 51)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SFTPC SFTPC, IVS4DS, G-A, +1 SNV Pathogenic 13207 GRCh37:
GRCh38:
2 SFTPC NM_001317778.2(SFTPC):c.218T>C (p.Ile73Thr) SNV Pathogenic 13208 rs121917834 GRCh37: 8:22020609-22020609
GRCh38: 8:22163096-22163096
3 SFTPC NM_001317778.2(SFTPC):c.545T>A (p.Leu182Gln) SNV Pathogenic 13210 rs121917835 GRCh37: 8:22021523-22021523
GRCh38: 8:22164010-22164010
4 SFTPC NM_001317778.2(SFTPC):c.435+1G>T SNV Pathogenic 13211 rs1586422427 GRCh37: 8:22021060-22021060
GRCh38: 8:22163547-22163547
5 SFTPC NM_001317778.2(SFTPC):c.347C>A (p.Ala116Asp) SNV Pathogenic 13212 rs121918559 GRCh37: 8:22020971-22020971
GRCh38: 8:22163458-22163458
6 SFTPC NM_001317778.2(SFTPC):c.196G>A (p.Glu66Lys) SNV Pathogenic 13213 rs121917836 GRCh37: 8:22020240-22020240
GRCh38: 8:22162727-22162727
7 SFTPC NM_001317778.2(SFTPC):c.563T>C (p.Leu188Pro) SNV Pathogenic 13214 rs121918560 GRCh37: 8:22021541-22021541
GRCh38: 8:22164028-22164028
8 SFTPC NM_003018.3:c.435_436insGT Insertion Pathogenic 998299 GRCh37:
GRCh38:
9 SFTPC NM_001317778.2(SFTPC):c.548G>A (p.Cys183Tyr) SNV Pathogenic/Likely pathogenic 978452 GRCh37: 8:22021526-22021526
GRCh38: 8:22164013-22164013
10 SFTPC NM_001317778.2(SFTPC):c.444del (p.Ala149fs) Deletion Likely pathogenic 1065347 GRCh37: 8:22021420-22021420
GRCh38: 8:22163907-22163907
11 SFTPC NM_001317778.2(SFTPC):c.157G>A (p.Ala53Thr) SNV Conflicting interpretations of pathogenicity 911206 GRCh37: 8:22020201-22020201
GRCh38: 8:22162688-22162688
12 SFTPC NM_001317778.2(SFTPC):c.523C>G (p.Leu175Val) SNV Conflicting interpretations of pathogenicity 362562 rs201685063 GRCh37: 8:22021501-22021501
GRCh38: 8:22163988-22163988
13 SFTPC NM_001317778.2(SFTPC):c.115G>T (p.Val39Leu) SNV Conflicting interpretations of pathogenicity 225466 rs183533911 GRCh37: 8:22020159-22020159
GRCh38: 8:22162646-22162646
14 SFTPC NM_001317778.2(SFTPC):c.237G>A (p.Gln79=) SNV Uncertain significance 908425 GRCh37: 8:22020628-22020628
GRCh38: 8:22163115-22163115
15 SFTPC NM_001317778.2(SFTPC):c.436-15G>A SNV Uncertain significance 362559 rs374909143 GRCh37: 8:22021399-22021399
GRCh38: 8:22163886-22163886
16 SFTPC NM_001317778.2(SFTPC):c.*193C>A SNV Uncertain significance 362571 rs886062816 GRCh37: 8:22021953-22021953
GRCh38: 8:22164440-22164440
17 SFTPC NM_001317778.2(SFTPC):c.505G>A (p.Gly169Arg) SNV Uncertain significance 362561 rs766093799 GRCh37: 8:22021483-22021483
GRCh38: 8:22163970-22163970
18 SFTPC , BMP1 NM_006129.4(BMP1):c.-126G>A SNV Uncertain significance 362574 rs527604798 GRCh37: 8:22022793-22022793
GRCh38: 8:22165280-22165280
19 SFTPC NM_001317778.2(SFTPC):c.410T>A (p.Leu137His) SNV Uncertain significance 693987 rs1586422320 GRCh37: 8:22021034-22021034
GRCh38: 8:22163521-22163521
20 SFTPC NM_001317778.2(SFTPC):c.445G>T (p.Ala149Ser) SNV Uncertain significance 911270 GRCh37: 8:22021423-22021423
GRCh38: 8:22163910-22163910
21 SFTPC NM_001317778.2(SFTPC):c.*186G>A SNV Uncertain significance 909348 GRCh37: 8:22021946-22021946
GRCh38: 8:22164433-22164433
22 SFTPC NM_001317778.2(SFTPC):c.*171G>A SNV Likely benign 908497 GRCh37: 8:22021931-22021931
GRCh38: 8:22164418-22164418
23 SFTPC NM_001317778.2(SFTPC):c.445G>C (p.Ala149Pro) SNV Likely benign 362560 rs202145169 GRCh37: 8:22021423-22021423
GRCh38: 8:22163910-22163910
24 SFTPC NM_001317778.2(SFTPC):c.142G>A (p.Val48Met) SNV Likely benign 362553 rs566914013 GRCh37: 8:22020186-22020186
GRCh38: 8:22162673-22162673
25 SFTPC NM_001317778.2(SFTPC):c.482G>A (p.Arg161Gln) SNV Likely benign 13209 rs34957318 GRCh37: 8:22021460-22021460
GRCh38: 8:22163947-22163947
26 SFTPC NM_001317778.2(SFTPC):c.176A>G (p.His59Arg) SNV Likely benign 362554 rs201567623 GRCh37: 8:22020220-22020220
GRCh38: 8:22162707-22162707
27 SFTPC NM_001385654.1(SFTPC):c.-53-14C>T SNV Likely benign 362547 rs377267823 GRCh37: 8:22019275-22019275
GRCh38: 8:22161762-22161762
28 SFTPC NM_001317778.2(SFTPC):c.42G>A (p.Pro14=) SNV Likely benign 362551 rs199905878 GRCh37: 8:22019383-22019383
GRCh38: 8:22161870-22161870
29 SFTPC NM_001317778.2(SFTPC):c.24C>G (p.Val8=) SNV Likely benign 362550 rs144603526 GRCh37: 8:22019365-22019365
GRCh38: 8:22161852-22161852
30 SFTPC NM_001317778.2(SFTPC):c.43-7G>A SNV Benign/Likely benign 362552 rs79440568 GRCh37: 8:22020080-22020080
GRCh38: 8:22162567-22162567
31 BMP1 , SFTPC NM_001385654.1(SFTPC):c.-53-81G>C SNV Benign 362544 rs28438700 GRCh37: 8:22019208-22019208
GRCh38: 8:22161695-22161695
32 SFTPC NM_001317778.2(SFTPC):c.288C>T (p.Ile96=) SNV Benign 362557 rs79866047 GRCh37: 8:22020679-22020679
GRCh38: 8:22163166-22163166
33 SFTPC NM_001317778.2(SFTPC):c.303C>T (p.Leu101=) SNV Benign 908426 GRCh37: 8:22020694-22020694
GRCh38: 8:22163181-22163181
34 BMP1 , SFTPC NM_001317778.2(SFTPC):c.*36A>G SNV Benign 362567 rs75518353 GRCh37: 8:22021796-22021796
GRCh38: 8:22164283-22164283
35 BMP1 , SFTPC NM_001317778.2(SFTPC):c.*123G>A SNV Benign 362568 rs7592 GRCh37: 8:22021883-22021883
GRCh38: 8:22164370-22164370
36 SFTPC NM_001385654.1(SFTPC):c.-53-38C>T SNV Benign 362546 rs77253713 GRCh37: 8:22019251-22019251
GRCh38: 8:22161738-22161738
37 SFTPC NM_001385654.1(SFTPC):c.-53-39C>G SNV Benign 362545 rs79647630 GRCh37: 8:22019250-22019250
GRCh38: 8:22161737-22161737
38 SFTPC NM_001317778.2(SFTPC):c.228G>C (p.Pro76=) SNV Benign 362556 rs75413490 GRCh37: 8:22020619-22020619
GRCh38: 8:22163106-22163106
39 SFTPC NM_001317778.2(SFTPC):c.552C>T (p.Gly184=) SNV Benign 362563 rs529959941 GRCh37: 8:22021530-22021530
GRCh38: 8:22164017-22164017
40 SFTPC NM_001317778.2(SFTPC):c.18+12G>A SNV Benign 362565 rs202194863 GRCh37: 8:22021584-22021584
GRCh38: 8:22164071-22164071
41 SFTPC NM_001317778.2(SFTPC):c.18+13G>A SNV Benign 362566 rs74515418 GRCh37: 8:22021585-22021585
GRCh38: 8:22164072-22164072
42 SFTPC NM_001317778.2(SFTPC):c.351T>G (p.Pro117=) SNV Benign 362558 rs35457216 GRCh37: 8:22020975-22020975
GRCh38: 8:22163462-22163462
43 SFTPC NM_001317778.2(SFTPC):c.*12T>A SNV Benign 362564 rs200469074 GRCh37: 8:22021566-22021566
GRCh38: 8:22164053-22164053
44 SFTPC NM_001317778.2(SFTPC):c.228G>A (p.Pro76=) SNV Benign 362555 rs75413490 GRCh37: 8:22020619-22020619
GRCh38: 8:22163106-22163106
45 SFTPC NM_001317778.2(SFTPC):c.68G>A (p.Arg23Gln) SNV Benign 909206 GRCh37: 8:22020112-22020112
GRCh38: 8:22162599-22162599
46 BMP1 , SFTPC NM_001317778.2(SFTPC):c.413C>A (p.Thr138Asn) SNV Benign 165210 rs4715 GRCh37: 8:22021037-22021037
GRCh38: 8:22163524-22163524
47 BMP1 , SFTPC NM_001317778.2(SFTPC):c.436-26C>G SNV Benign 165211 rs2070687 GRCh37: 8:22021388-22021388
GRCh38: 8:22163875-22163875
48 BMP1 , SFTPC NM_001317778.2(SFTPC):c.*173C>T SNV Benign 362569 rs1126931 GRCh37: 8:22021933-22021933
GRCh38: 8:22164420-22164420
49 BMP1 , SFTPC NM_001317778.2(SFTPC):c.*174G>A SNV Benign 362570 rs1139547 GRCh37: 8:22021934-22021934
GRCh38: 8:22164421-22164421
50 BMP1 , SFTPC NM_001317778.2(SFTPC):c.201+14G>A SNV Benign 165209 rs8192327 GRCh37: 8:22020259-22020259
GRCh38: 8:22162746-22162746

UniProtKB/Swiss-Prot genetic disease variations for Surfactant Metabolism Dysfunction, Pulmonary, 2:

72
# Symbol AA change Variation ID SNP ID
1 SFTPC p.Ile73Thr VAR_026753 rs121917834
2 SFTPC p.Ala116Asp VAR_026754 rs121918559
3 SFTPC p.Arg167Gln VAR_026755 rs34957318
4 SFTPC p.Leu188Gln VAR_026756 rs121917835
5 SFTPC p.Glu66Lys VAR_036855 rs121917836

Expression for Surfactant Metabolism Dysfunction, Pulmonary, 2

Search GEO for disease gene expression data for Surfactant Metabolism Dysfunction, Pulmonary, 2.

Pathways for Surfactant Metabolism Dysfunction, Pulmonary, 2

GO Terms for Surfactant Metabolism Dysfunction, Pulmonary, 2

Molecular functions related to Surfactant Metabolism Dysfunction, Pulmonary, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.62 SFTPC BMP1

Sources for Surfactant Metabolism Dysfunction, Pulmonary, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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